ClinVar Miner

List of variants studied for Deficiency of galactokinase by Illumina Laboratory Services, Illumina

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.*25C>T rs9367 0.71419
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443 0.61836
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669 0.37872
NM_000213.5(ITGB4):c.5054-15A>G rs8078247 0.15459
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385 0.03914
NM_000213.5(ITGB4):c.*4C>T rs189610725 0.00703
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162 0.00410
NM_000154.2(GALK1):c.*32C>T rs116845474 0.00367
NM_000154.2(GALK1):c.1107+5G>A rs201663491 0.00297
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556 0.00083
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510 0.00045
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358 0.00037
NM_000154.2(GALK1):c.*85C>T rs542735255 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088 0.00024
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171 0.00018
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001 0.00012
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616 0.00011
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311 0.00009
NM_000154.2(GALK1):c.165+6G>A rs779996721 0.00006
NM_000154.2(GALK1):c.267G>T (p.Gln89His) rs144915547 0.00006
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp) rs541580127 0.00006
NM_000154.2(GALK1):c.1152C>T (p.Ala384=) rs373041566 0.00005
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) rs370987432 0.00005
NM_000154.2(GALK1):c.-44C>T rs758902207 0.00003
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys) rs371641311 0.00002
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys) rs764167059 0.00002
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) rs769167240 0.00001
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser) rs773416475 0.00001
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg) rs201811960 0.00001
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu) rs754230597 0.00001
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg) rs555279924 0.00001
NM_000154.2(GALK1):c.786G>A (p.Glu262=) rs756263074 0.00001
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu) rs558638718 0.00001
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) rs886053419 0.00001
NM_000154.2(GALK1):c.-27A>C rs767223937
NM_000154.2(GALK1):c.396A>G (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420

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